[HTML][HTML] Fragile X-associated tremor/ataxia syndrome (FXTAS): pathophysiology and clinical implications
AM Cabal-Herrera, N Tassanakijpanich… - International journal of …, 2020 - mdpi.com
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …
[HTML][HTML] Modeling Fragile X Syndrome in Drosophila
M Drozd, B Bardoni, M Capovilla - Frontiers in Molecular …, 2018 - frontiersin.org
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a
hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental …
hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental …
[HTML][HTML] Composition of the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome
L Ma, AW Herren, G Espinal, J Randol… - Acta neuropathologica …, 2019 - Springer
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
associated with a premutation repeat expansion (55–200 CGG repeats) in the 5 …
associated with a premutation repeat expansion (55–200 CGG repeats) in the 5 …
[HTML][HTML] Conventional MRI findings in hereditary degenerative ataxias: a pictorial review
Purpose Cerebellar ataxias are a large and heterogeneous group of disorders. The
evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of …
evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of …
Systematic clinical approach for diagnosing upper limb tremor
J van de Wardt, AMM van der Stouwe… - Journal of Neurology …, 2020 - jnnp.bmj.com
Tremor is the most common movement disorder worldwide, but diagnosis is challenging. In
2018, the task force on tremor of the International Parkinson and Movement Disorder Society …
2018, the task force on tremor of the International Parkinson and Movement Disorder Society …
[HTML][HTML] Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome
Background Carriers of the FMR1 premutation are at increased risk of developing a late-
onset progressive neurodegenerative disease, fragile X-associated tremor/ataxia syndrome …
onset progressive neurodegenerative disease, fragile X-associated tremor/ataxia syndrome …
[HTML][HTML] Increased pain symptomatology among females vs. males with fragile X-associated tremor/ataxia syndrome
D Johnson, E Santos, K Kim, MD Ponzini… - Frontiers in …, 2022 - frontiersin.org
Individuals with the fragile X premutation report symptoms of chronic pain from multiple
systems, have increased incidence of comorbid conditions where pain is a prominent …
systems, have increased incidence of comorbid conditions where pain is a prominent …
Fragile X premutation and associated health conditions: a review
N Tassanakijpanich, RJ Hagerman… - Clinical …, 2021 - Wiley Online Library
Fragile X syndrome (FXS) is the most common single gene disorder, which causes autism
and intellectual disability. The fragile X mental retardation 1 (FMR1) gene is silenced when …
and intellectual disability. The fragile X mental retardation 1 (FMR1) gene is silenced when …
[HTML][HTML] Clinical and molecular correlates of abnormal changes in the cerebellum and globus pallidus in fragile X premutation
Background Fragile X premutation carriers (55–200 CGG triplets) may develop a
progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome …
progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome …